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Endocrine Abstracts (2015) 37 S15.3 | DOI: 10.1530/endoabs.37.S15.3

ECE2015 Symposia Puberty: new mechanisms (3 abstracts)

Genetic regulators of the timing of puberty

Ken Ong


University of Cambridge, Cambridge, UK.


The timing of puberty varies widely between individuals and in girls early puberty timing is associated with higher risks for adult obesity, type 2 diabetes (T2D), cardiovascular disease (CVD), breast cancer and all-cause mortality. Understanding the regulation of puberty timing therefore has relevance to disease pathogenesis as well as developmental and human biology. Large-scale genome-wide association studies have identified robust evidence for more than 100 independent genomic association signals associated with age at menarche, including overlap with genes that are disrupted in rare disorders of puberty. Such findings have implicated RNA-mediated gene silencing, histone regulation of gene activity, and retinoic acid-related nuclear receptors among novel mechanisms that regulate puberty timing. Menarche signals are enriched in imprinted gene regions and three imprinted loci (DLK1/WDR25, MKRN3/MAGEL2, and KCNK9) demonstrated parent-of-origin specific associations concordant with their known parental expression patterns; these findings indicate parental conflicts over the selective advantages of puberty timing. Recent findings provide evidence for a substantially shared genetic aetiology of puberty timing between males and females, and also indicate causal relationships between earlier puberty timing and higher BMI, T2D, and CVD, which are likely mediated by both BMI-related and BMI-independent mechanisms.

Disclosure: This work was supported by the Medical Research Council (Unit Programme number MC_UU_12015/2).

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